Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. [electronic resource]
Producer: 19981026Description: 408-12 p. digitalISSN:- 0148-7299
- Anemia
- Cholestasis, Intrahepatic -- genetics
- Cholesterol -- metabolism
- Hematologic Diseases -- genetics
- Hepatomegaly
- Heterozygote
- Humans
- Hyperbilirubinemia
- Infant, Newborn
- Leukocytosis
- Male
- Metabolism, Inborn Errors -- genetics
- Mevalonic Acid -- blood
- Phenotype
- Phosphotransferases (Alcohol Group Acceptor) -- deficiency
- Splenomegaly
- Thrombocytopenia
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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